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Objective:To report the clinical manifestation and genetic characteristics of a case of de novo Huntington′s disease due to paternal intermediate alleles. Methods:Clinical data and imaging features of a middle-aged female, who complained of unstable walking without positive family history and was admitted to Xuanwu Hospital, Capital Medical University on September 20, 2022, were retrospectively analyzed. The serum samples of the patient and her parents were used to screen HTT gene dynamic mutation in accordance with the principle of informed consent and voluntary. And the relevant literatures were reviewed. Results:This is a 38-year-old female with progressive course, who presented as ataxia, involuntary movement at the end of extremities, dystonia, and cognitive impairment. Imaging results showed atrophy of bilateral caudate nuclei, as well as decreased glucose metabolism of bilateral caudate nuclei, putamen and partial cortex. Genetic testing showed the abnormal expansion of polymorphic trinucleotide (CAG) repeats in HTT gene and confirmed the diagnosis of Huntington′s disease. The CAG repeat length of the patient was 17/47 (pathopoiesis), of the father was 17/35 (intermediate alleles), and of the mother was 17/17 (normal). Conclusions:Paternal intermediate alleles may cause the first case of Huntington′s disease in a family. Importantly, HTT gene screening should be performed for the patient and parents when the diagnosis of Huntington′s disease is clinically possible despite negative family history, to prevent the misdiagnosis.
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Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis and neuromyelitis optica spectrum disorders (NMOSD) are central nervous system diseases mediated by autoimmune antibodies. With the improvement of diagnosis and treatment, the reports of the two diseases appearing in the same patient are increasing. To strengthen the understanding of this kind of comorbidity, two cases of anti-NMDAR-encephalitis coexisting with NMOSD admitted in our hospital were reported. The clinical manifestations and imaging examination of the two patients showed the evidence of involvement of both brain and spinal cord. The anti-NMDAR antibody and anti-aquaporin 4 antibody tests were positive. In addition, gamma globulin or corticosteroid impulse therapy was effective in the treatment of two patients.
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Objective To assess whether AECOPD patients can breathe independently at the PIC window and thus whether NPPV was necessary after extubation.Methods We performed a prospective observational study, we used the spontaneous breathing trial (SBT)to assess whether each patient could breathe independently at the PIC window,then performed extubation.Patients who passed the SBT received oxygen therapy only,whereas those who failed received NPPV.However,if the former showed respiratory distress,they also received NPPV.The primary out-come variables were SBT pass/fail,the demand for NPPV and rate of reintubation within 72h following extubation. Results In all,23 patients were enrolled,15cases(65.2%)of which passed the SBT.Of these,12cases (80.0%) patients developed respiratory distress after extubation and required NPPV (one of whom required reintubation).Of the eight patients that failed,one received reintubation after NPPV.The reintubation rates within 72h following extuba-tion of SBT-pass(7.0%)and SBT-fail (13.0%)(χ2 =1.476,P>0.05)patients were comparable.Conclusion Most AECOPD patients can breathe independently at the PIC window,but nonetheless develop respiratory distress and thus require NPPV following extubation.
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Objective To detect changes of regional grey matter and white matter volume in patients of neuromyelitis optica (NMO) by voxel-based morphometry (VBM),and investigate its relationship with clinical variables.Methods Conventional magnetic resonance imaging (MRI) and structural threedimensional MRI were obtained from 20 NMO and 20 sex-and age-matched healthy volunteers.The comparison of grey matter and white matter volume between the two groups was analyzed by VBM tools of statistical parametric mapping (SPM) 5.Pearson correlational analysis was used to assess correlations between regional volume decrease and disease duration and expanded disability status scale (EDSS) scores in NMO patients.Results Compared with normal controls,NMO patients had grey matter atrophy in several cortical regions,such as right inferior frontal gyrus (cluster size 514),left superior temporal gyrus (282),right middle temporal gyvus (229) and right insula (211) (t =3.58-5.11,AlphaSim corrected,P ＜0.05).White matter atrophy was found in several subcortical regions in NMO patients,such as right precentral and postcentral gyrus (cluster size 457,110),left middle frontal gyrus (285),and right inferior parietal lobule (231) (t =2.90-4.25,AlphaSim corrected,P ＜ 0.05).Grey matter and white matter volume loss were not significantly correlated with clinical duration or EDSS score in NMO.Conclusion By means of VBM,regional atrophy of grey matter and white matter is found in NMO patients,which may provide evidence for brain structural abnormality in NMO.
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Objective To explore the clinical features and diagnostic method of primary natural killer( NK)/T cell meningeal lymphoma. Methods An unusual case of a 19-year-old male with primary NK/T cell meningeal lymphoma was reported. His clinical presentation and laboratory findings were discussed. The related literatures have been reviewed. Results The patient presented with diplopia,headache, vomiting and facial drooping at the onset, followed by progressive pain and weakness of the four limbs. Cerebrospinal fluid showed significant increase in pressure, leukocytes number, levels of protein,normal glucose and adenosine deaminase, negative tuberculosis antibody and sterile staining. In cerebrospinal fluid cytological analysis, May-Grunwald-Gimsa staining showed large number of atypical lymphocytes with irregular nucleus and nuclear fission, Ki-67 immunostaining showed extensive proliferative activity of the lymphoid cells. Flow cytometric immunophenotypic analysis of cerebrospinal fluid indicated 97. 98 percent of cells expressed surface CD3, CD7, CD56, CD2, CD5, and partially expressed CD8. This was a rare immunophenotype for NK/T-cell. Cranial MRI with gadolinium showed thickening of the trigeminal nerve with slight enhancement and diffuse leptomeningeal enhancement. CT of the chest and abdomen and bone marrow biopsies were negative. He was diagnosed as primary NK/T cell meningeal lymphoma based on the clinical features and related examination. Conclusions Primary NK/T cell meningeal lymphoma is a rare type of primary central nervous lymphomas which has special immunophenotype. The clinical features include progressive raised intra-cranial pressure, multiple cranial and spinal nerve involvements. Cerebrospinal fluid cytological analysis and flow cytometric immunophenotypic analysis are key work-up for diagnosis. It has poor response to chemotherapy and radiotherapy.
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0 05)between AD and aging c ontrol subjects or MCI patients. Conclusions Episodic memory impairment and semantic memory impairment beside the immediat ely recall and naming are the earliest and most pervasive memory deficit in mild AD patients, and episodic memory impairment is more specific than semantic memo ry impairment for the diagnosis of AD.